Phenylketonuria a cikin yara

Wani lokaci ma duk wani kyakkyawan shiri da kuma fatan da ke rufe iyayensu matasa za a iya ƙetare a cikin wani motsi. Misali, mummunan ganewar asali shine phenylketonuria.

Dalilin phenylketonuria a cikin yara

Phenylketonuria shine cututtukan kwayoyin cuta, ainihin abin da ke haifar da amino acid metabolism, wato, rashin enzyme phenylalanine hydroxylase, wanda ke da alhakin musayar phenylalanine, sunadaran da aka samo a cikin yawancin abinci da aka cinye a al'ada. Ba raba rassa ba babbar haɗari ne ga kwakwalwar mutum da tsarin jin tsoro.

Haka kuma cututtuka ba haka ba ne - a cikin 1 lokuta 7000. Abin takaici, yarinya da wannan cututtuka zai iya bayyana a cikin iyayen kirki masu lafiya, idan sun kasance masu sintiri na latent, "janar" daga phenylketonuria.

Alamun phenylketonuria

Haɗarin cutar shine cewa ba zai yiwu a gane shi ba a lokacin lokacin jariri ba tare da gwaje-gwaje na musamman ba. Kuma alamu na farko zasu iya fitowa a cikin watanni 2-6 kawai:

Idan cutar ba ta bayyana a lokacin kuma ba ta fara magani ba, jinkirin tunanin mutum zai iya isa gagarumin mataki.

Phenylketonuria: Nunawa

Don ganowar cutar ta dace, an yi amfani da zane-zane ne kawai - nazarin jini na jariri don dauke da phenylalanine. Idan ana tayar da alamun, an aiko da yaro zuwa ga kwayoyin halitta don bayyana ganewar asali.

Phenylketonuria: magani

Babban abu a farfado da wannan mummunan cuta shine kayan abinci mai kyau tare da phenylketonuria. Jigon abincin da ke dauke da samfurori da ke dauke da phenylalanine, wato, duk abincin gina jiki na asali daga dabba. Rashin haɗin gina jiki zai cika da haɓakar amino acid na musamman.

Tare da tsufa, ƙwarewar tsarin mai juyayi zuwa furotin da ba su da tushe ya ragu kuma kusan dukkanin marasa lafiya tare da phenylketonuria bayan shekaru 12-14 suka canza zuwa abinci mai kyau.